Wishbone Day and Osteogenesis Imperfecta (OI) Disease
A rare bone disease
by Khim Lamichhane Kazi
Wishbone Day is an international community awareness effort for Osteogenesis Imperfecta (OI), also known as ‘brittle bones’. Wishbone Day is celebrating all over the world on 6th of May for raising awareness of OI.
Wishbone Day started from Australian OI Conference in 2008. After this conference, the OI young people’s forum suggested and chose the 6th of May as the date for an OI awareness day. The aim of Wishbone Day is to draw awareness to the contributions of people with OI, the challenges of living with OI, and the important ways that people could contribute to our journey to living full and happy lives. Wishbone Day Celebration is to aware about this disease OI throughout the world for helping, supporting and understanding. It is only for “awareness” because awareness makes a difference. Through awareness people living with OI will have more possibilities, opportunities and a way of happy life. Wishbone Day will raise awareness of OI by acknowledging all the great things that people with OI achieve. Also it will aware to the medical facilitators, doctors, drug companies, medical equipment companies and investor to produce the required things for fighting with this disease. Through positive awareness people can highlight the need for better access, greater understanding and how communities can make a difference through their interactions and decisions. Due to lack of awareness many people being handicapped. Currently there is no cure and medicine for OI but researcher and scholars are working towards for inventing and discovering the medicine and treatment for this disease. Awareness is Key to expanding the opportunities for more research and better treatment as well as cure. The majority of OI cases are caused by genetic disorder, but sometime spontaneous mutation on gene. Because of lack of adequate awareness of this disease many children and people are being handicapped, many are still undiagnosed and not able to know about the disease.
Osteogenesis Imperfecta (OI): A Rare Bone Disease
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A person may have just a few or as many as several hundred fractures in a lifetime. It is also known as brittle bone disease. There is no medicine is discovered and invented to cure this disease but scientists are doing research and studies has been going on for inventing new methods, drug and treatment process for this disease. Some medicine and technologies has been invented for strengthen the bone and decrease the pain.
Some general sign and symptoms of Osteogenesis Imperfecta (OI)
• In addition to fractures people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclera, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary disease occurs in more severely affected people.
• OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues. It is not caused by too little calcium or poor nutrition.
• OI is variable with 8 different types described in medical literature.
• The types range in severity from a lethal form to a milder form with few visible symptoms.
• The specific medical problems a person will encounter will depend on the degree of severity.
• A person with mild OI may experience a few fractures while those with the severe forms may have affected throughout his or her life time.
• The number of affected with OI is thought to be one birth in 20000 to 250000 births.
• The range is so wide because mild OI often goes undiagnosed.
Testing and Diagnosis
Diagnosis for OI is primarily based on signs seen in a doctor’s examination. When there is uncertainty about the diagnosis, it is best to consult a physician who is familiar with OI. Genetic testing is required to confirm a diagnosis of OI through collagen or gene analysis—a skin sample or a blood sample are used to study the amount of Type I collagen or to do a DNA analysis.
Clinical Features and Types
OI has been classified by type according to a system based on mode of inheritance, clinical feature, and information from x-rays. The characteristic features of OI vary greatly from person to person, even among people with the same type of OI, and even within the same family. This classification system has been generally accepted worldwide since 1979 but continues to evolve as new information is discovered. In recent years, evidence from bone biopsies and other research led to the addition of Types I to VIII. Type 1
Type I is the most mild type of OI. Some features of this type are: Bones predisposed to fracture, most fractures occur before puberty, Normal or near-normal stature, Loose joints and muscle weakness, Sclera (whites of the eyes) usually have a blue, purple, or gray tint, Triangular face, Tendency toward spinal curvature, Bone deformity absent or minimal, Brittle teeth possible, Hearing loss possible, often beginning in early 20s or 30s, Collagen structure is normal, but the amount is less than normal. Type 2
Type II is the most severe form of OI. Some features of this type are: Frequently lethal at or shortly after birth, often due to respiratory problems; in recent years, some people with type II have lived into young adulthood, numerous fractures and severe bone deformity, Small stature with underdeveloped lungs, Collagen improperly formed. Type 3
Type III is the most severe form of OI in people who survive the perinatal period. Some features of this type are: Bones fracture easily; fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth, Short stature, Sclera (whites of the eyes) have a blue, purple, or gray tint, Triangular face, Spinal curvature, Loose joints and poor muscle development in arms and legs, Brittle teeth possible, Respiratory problems possible, Bone deformity, often severe, Barrel-shaped rib cage, Hearing loss possible, Collagen improperly formed. Type 4
Type IV is between type I and type III in severity. Some features of this type are:Bones fracture easily, most before puberty, Shorter than average stature, Barrel-shaped rib cage, Triangular face, Sclera are white or near-white (i.e., normal in color), Hearing loss possible, Mild to moderate bone deformity, Tendency toward spinal curvature, Brittle teeth possible, Collagen improperly formed. Type 5
Type V has similar symptoms to type IV: A dense band seen on x-rays adjacent to the growth plate of the long bones, Calcification of the membrane between the radius and ulna, leading to restriction of forearm rotation, Unusually large calluses, called hypertrophic calluses, at the sites of fractures or surgical procedures, White sclera, Normal teeth, Bone has a “mesh-like” appearance when viewed under the microscope. Type 6
Type VI has similar symptoms to type IV: People with this type VI of OI are moderately to severely affected. They have normal (white or slightly blue) sclera, and the teeth are not affected. The alkaline phosphatase activity level is slightly elevated in type VI, and this can be determined by a blood test. Because the clinical features are so similar to other moderate types of OI, a bone biopsy is the only method by which type VI can be diagnosed with certainty. The bone from patients with this form has a distinctive “fish-scale” appearance when viewed under the microscope. Fractures will start from and between 4 to 18 months of age. Patients with OI type VI sustained more frequent fractures than patients with OI type IV. Sclerae were white or faintly blue and dentinogenesis imperfecta was uniformly absent. All patients had vertebral compression fractures. Type 7
Some features of this type of are: The first described cases resemble Type IV OI in many aspects of appearance and symptoms, In other instances the appearance and symptoms are similar to Type II lethal OI, except infants had white sclera, a small head and a round face, Short stature, Short humerus and short femur, Coxa vera is common (the acutely angled femur head affects the hip socket), Results from recessive inheritance of a mutation to the CRTAP (cartilage-associated protein) gene. Partial function of CRTAP leads to moderate symptoms while total absence of CRTAP was lethal in all 4 identified cases. Type 8
Some features of this type are: Resembles lethal Type II or Type III OI in appearance and symptoms except that infants have white sclera, Severe growth deficiency, Extreme skeletal under mineralization.
Doctors who see children and adults with OI include primary care physicians, orthopedists, endocrinologists, geneticists, physiotherapists and physiatrists (rehabilitation specialists). Other specialists such as a neurologist may be needed. Several medications and other treatments are being explored for their potential use to treat OI. These include growth hormone treatment, treatment with intravenous and oral drugs called bisphosphonates and gene therapies. Rodding Surgery, Bisphosphonates medicine and Physiotherapy allows bones to be straightened which makes them stronger and harder to break. Treatments focus on minimizing fractures, maximizing mobility, maximizing independent function and general health. Rod surgery, especially telescopic rod, FD, Nailing, ect are essential parts of OI management. Physical therapy and safe exercise including hydrotherapy, occupational therapy, Casts, splints, or wraps for broken bones, Braces to support legs, ankles, knees and wrists as needed, Mobility aids such as canes, walkers, strollers or wheelchairs and other equipment or aids for independence may be needed to compensate for weakness or short stature. People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. Swimming (hydrotherapy) and are common exercise choices for people with OI.
Despite the challenges of managing OI, most adults and children who have OI lead productive and successful lives. They attend school, develop friendships and other relationships, have careers, raise families, participate in sports and other recreational activities and are active members of their communities.
Wishbone Day is the voice of people with OI, talking about OI and the things that matter most to them, in their own way. Wishbone Day draws awareness to the contributions of people with OI, the challenges of living with OI, and the important ways that people can contribute to our journey to live full and happy lives. People with OI should be the ones that decide what is most important and how conversations about OI should be had. Because awareness makes the differences, so we are trying to raise and spread awareness of Wishbone Day throughout.